Canonical Allele Identifier: CA381683539

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70332185A>T (hg19) ; chr11:g.70486080A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70486080A>T , CM000673.2:g.70486080A>T	GRCh38
NC_000011.9:g.70332185A>T , CM000673.1:g.70332185A>T	GRCh37
NC_000011.8:g.70009833A>T	NCBI36
NG_042866.1:g.643717T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.2446T>A	ENSP00000345193.7:p.Phe816Ile
ENST00000412252.6:c.757+4223T>A	ENSP00000414876.2:n.757+4223T>A
ENST00000601538.6:c.4213T>A MANE Select	ENSP00000469689.2:p.Phe1405Ile
ENST00000654939.1:c.1641T>A
ENST00000656230.1:c.3076T>A	ENSP00000499561.1:p.Phe1026Ile
ENST00000659264.1:c.2503T>A	ENSP00000499270.1:p.Phe835Ile
ENST00000338508.8:c.2449T>A	ENSP00000345193.6:p.Phe817Ile
ENST00000357171.7:c.718+4223T>A	ENSP00000349694.4:n.718+4223T>A
ENST00000409161.5:c.2425T>A	ENSP00000386491.1:p.Phe809Ile
ENST00000412252.5:c.755+4223T>A
ENST00000423696.6:c.3076T>A	ENSP00000394536.2:p.Phe1026Ile
ENST00000424924.5:c.2050T>A	ENSP00000402944.1:p.Phe684Ile
ENST00000449833.6:c.2449T>A	ENSP00000399423.3:p.Phe817Ile
ENST00000601538.5:c.4213T>A	ENSP00000469689.2:p.Phe1405Ile
NM_012309.4:c.4213T>A	NP_036441.2:p.Phe1405Ile
NM_133266.4:c.2449T>A	NP_573573.2:p.Phe817Ile
NR_110766.1:n.833+4223T>A
XM_005277930.2:c.4213T>A	XP_005277987.1:p.Phe1405Ile
XM_005277932.2:c.3076T>A	XP_005277989.1:p.Phe1026Ile
XM_006718478.2:c.4183T>A	XP_006718541.1:p.Phe1395Ile
XM_011544854.1:c.4225T>A	XP_011543156.1:p.Phe1409Ile
XM_011544855.1:c.4204T>A	XP_011543157.1:p.Phe1402Ile
XM_011544856.1:c.4198T>A	XP_011543158.1:p.Phe1400Ile
XM_011544857.1:c.4177T>A	XP_011543159.1:p.Phe1393Ile
XM_011544858.1:c.4225T>A	XP_011543160.1:p.Phe1409Ile
XM_011544859.1:c.3088T>A	XP_011543161.1:p.Phe1030Ile
XM_005277932.3:c.3076T>A	XP_005277989.1:p.Phe1026Ile
XM_017017387.1:c.4213T>A	XP_016872876.1:p.Phe1405Ile
XM_017017388.1:c.4213T>A	XP_016872877.1:p.Phe1405Ile
XM_017017389.1:c.4186T>A	XP_016872878.1:p.Phe1396Ile
XM_017017390.1:c.2503T>A	XP_016872879.1:p.Phe835Ile
NM_133266.5:c.2449T>A	NP_573573.2:p.Phe817Ile
NR_110766.2:n.834+4223T>A
NM_001379226.1:c.3076T>A	NP_001366155.1:p.Phe1026Ile
NM_012309.5:c.4213T>A MANE Select	NP_036441.2:p.Phe1405Ile